Results 131 to 140 of about 24,692 (277)
Pediatric Neurology Briefs, 1990 A ten year old girl with metachromatic leukodystrophy in whom neurophysiologic function and sulfatide metabolism had improved after she received a bone marrow transplant five years before is reported from the Bone Marrow Transplantation Program ...
J Gordon Millichap
doaj +1 more source
Clinical and genetic aspects of defects in the mitochondrial iron-sulfur cluster synthesis pathway [PDF]
, 2018 Iron-sulfur clusters are evolutionarily conserved biological structures which play an important role as cofactor for multiple enzymes in eukaryotic cells.
Van Coster, Rudy, Vanlander, Arnaud
core +2 more sources
Nerve Ultrasound Detects Peripheral Nerve Enlargement in Cerebrotendinous Xanthomatosis
Muscle &Nerve, Volume 73, Issue 6, Page 1082-1088, June 2026.ABSTRACT Introduction/Aims Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder caused by variants in the CYP27A1 gene, resulting in cholestanol accumulation in various tissues, including peripheral nerves. Polyneuropathy is common but often under‐recognized in CTX.
Antonio Edvan Camelo‐Filho +8 more
wiley +1 more source
Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy. [PDF]
, 2019 Aminoacyl-tRNA synthetases (ARSs) function to transfer amino acids to cognate tRNA molecules, which are required for protein translation. To date, biallelic mutations in 31 ARS genes are known to cause recessive, early-onset severe multi-organ diseases ...
Accogli, Andrea +28 more
core +2 more sources
Brain and Behavior, Volume 16, Issue 5, May 2026.This study, through an analysis of neuroimaging markers, biomarkers of white matter damage, and the volume of the hippocampal fimbria (a white matter structure) in patients with cerebral small vessel disease (CSVD), revealed that the protective effect of statin therapy against white matter damage in CSVD patients is independent of its lipid‐lowering ...
Rui Wang +5 more
wiley +1 more source
Mutation in POLR3K causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulation
Neurology: Genetics, 2018 Objective To identify the genetic cause of hypomyelinating leukodystrophy in 2 consanguineous families. Methods Homozygosity mapping combined with whole-exome sequencing of consanguineous families was performed.
I. Dorboz +15 more
semanticscholar +1 more source
Creating New β-Globin-Expressing Lentiviral Vectors by High-Resolution Mapping of Locus Control Region Enhancer Sequences. [PDF]
, 2020 Hematopoietic stem cell gene therapy is a promising approach for treating disorders of the hematopoietic system. Identifying combinations of cis-regulatory elements that do not impede packaging or transduction efficiency when included in lentiviral ...
Aleshe, Bamidele +14 more
core +1 more source
, 2013 Peroxisomes are essential organelles in higher eukaryotes as they play a major role in numerous metabolic pathways and redox homeostasis. Some peroxisomal abnormalities, which are often not compatible with life or normal development, were identified in ...
Geillon, Flore +7 more
core +3 more sources
Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.ABSTRACT Aminoacyl‐tRNA synthetases (aaRS) are essential enzymes that charge tRNAs with their corresponding amino acids, playing a critical role in protein synthesis. All 37 nuclear‐encoded ARS genes, comprising both cytosolic (ARS1) and mitochondrial (ARS2) isoforms, have now been linked to human disease.
M. I. Mendes +17 more
wiley +1 more source
Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy
Neurology, 2019 Objective To describe the leukodystrophy caused by pathogenic variants in LARS2 and KARS, encoding mitochondrial leucyl transfer RNA (tRNA) synthase and mitochondrial and cytoplasmic lysyl tRNA synthase, respectively.
M. S. van der Knaap +21 more
semanticscholar +1 more source